DETERMINATION OF APOLIPOPROTEIN-E GENOTYPES BY SINGLE-STRAND CONFORMATIONAL POLYMORPHISM

We used single-strand conformational polymorphism (SSCP) to determine apolipoprotein E (Apo E) genotypes in 47 individuals. A 295-base-pair (bp) DNA fragment coding for amino acid residues 80-178 of the Apo E p rotein gave distinct patterns for the three alleles. When we used SSCP to determine the Apo E polymorphism of five individuals whose phenoty ping results differed from those of genotyping, the SSCP results agree d with the genotyping results obtained by the PCR-based amplification refractory mutation system (ARMS). Because most of the reported rare a lleles of the Apo E gene involve mutations of amino acid residues in p ositions 120-160, our SSCP method is useful for determining rare as we ll as common alleles.